TLK2 – Joel is a lion, apparently.

It’s taken me a while to write this post. We have been given another potential diagnosis, but somehow I have found it difficult to write an update, partly due to the general hectic nature of everyday life, and also due to a reluctance to “commit” to another diagnosis, in case this turns out not to be the answer.

We spoke to Joel’s geneticist just before Christmas, and were told that he has a mutation on the TLK2 gene. Little is known about mutations on this gene. It was initially reported by geneticists in Holland as a cause for intellectual disability, and further patients with mutation have been identified through the DDD study. I understand that there are around 8 people in total with mutations on this gene so far. She had recently been to a conference where patients with a mutation on this gene were discussed.  Children appear to have very typical behaviour, with frequent melt downs and social and communication difficulties, so there appears to be a link to the autism spectrum. The geneticist also spoke about the children being of short stature, having puffy hands and feet, and having a similar facial appearance. I described Joel’s mysterious episodes of very high fever and vomiting with no obvious cause, and she spoke to a colleague in Holland who confirmed that one of the other children with this mutation also has such episodes.

The geneticist has said that she is more confident that this is more likely to be the unifying explanation for Joel’s difficulties, and this certainly seems to be the case. However as so little is known about this gene, the diagnosis tells us everything and nothing. The geneticists will be learning a lot about the syndrome as Joel and the other children grow and develop. After speaking to the geneticist I immediately posted in the Swan UK Facebook group, and within a few minutes had found one of the other families –  the power of social media! It was exciting to talk to the other Mum, and discover that there are some definite similarities between our boys.

The reason for the title of this post? Of course the first thing I did after speaking to the geneticist was Google. As she had indicated, there is little information available. I then searched Google images, to see if I could find any pictures of the other individuals. All I found was lots of pictures of lions. I couldn’t work out the connection, until I realised that TLK2 is often used to refer to the film The Lion King 2!

I would really love to make contact with other families affected by this gene mutation. I have set up a Facebook Group in case people search for us that way, and I would also be very grateful if as many people as possible could share this post far and wide. I have included some photos of Joel (both older and recent) in case any of the other TLK2 families out there read this.

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3 thoughts on “TLK2 – Joel is a lion, apparently.

  1. After 8.5 years, and 3 rounds of genetic testing, we learned last August that our son has this mutation too. We have felt so alone for so long and have been wanting to connect with anyone in a similar situation. I would love to get in touch with you. Please email me.
    Chantal

    Like

  2. What is your Facebook page? We have a little lion, well lioness too! Had the diagnosis about four months ago and felt so mixed we had a label but very little was known about it.

    Like

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